ABSTRACT
ObjectiveTo investigate the diagnosis and treatment of familial hypokalemic periodic paralysis with acidosis. MethodsThe proband's medical history， clinical manifestations， laboratory examinations and imaging characteristics were retrospectively analyzed， and prevalence situation of family members was investigated in detail. Next generation sequencing technology was used to detect the pathogenic gene loci related to periodic paralysis， and the relevant literatures were summarized. ResultsThe proband was definitely diagnosed as familial hypokalemic periodic paralysis. There was a heterozygous mutation in the SCN4A gene of the proband， which was c.2006G>A， resulting in amino acid changes R669H.The proband's grandfather， father and uncle shared the same variation. ConclusionsFamilial hypokalemic periodic paralysis with paroxysmal acidosis is rare， which is easily misdiagnosed as renal tubular acidosis. c 2006G>A mutation in SCN4A gene is the molecular basis of the disease in this family. The clinical phenotypes of different gene mutations are different， and gene screening is helpful for diagnosis and treatment.
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the relationship of erectile dysfunction (ED) with blood vessel-, nerve- and androgen-related factors in young and middle-aged men with type 2 diabetes mellitus (T2DM) in order to provide some clinical evidence for early prevention and treatment of ED.</p><p><b>METHODS</b>We divided 53 male T2DM patients under 50 years into an ED group (IIEF-5 score < or = 21, n = 28) and a non-ED (NED) group (IIEF-5 score > or = 22, n = 25). We detected the levels of blood lipid, glucose, total testosterone (TT), sex hormone-binding globulin (SHBG), sulfate dehydroepiandrosterone (DHEA-S), calculated free testosterone (cFT), and examined the complications of macroangiopathy (MA), diabetic retinopathy (DR) and diabetic peripheral neuropathy (DPN), and compared the above indicators between the two groups.</p><p><b>RESULTS</b>There were no significant differences between the two groups in age, diabetes duration, body mass index, blood pressure, and blood lipid and glucose levels (P > 0.05). The incidence rate of DR was significantly higher in the ED than in the NED group (39.3% vs 4.0%, P < 0.05), but no statistically significant differences were found in the levels of TT, cFT, SHBG and DHEA-S and the incidence rates of MA and DPN between the two groups (P > 0.05).</p><p><b>CONCLUSION</b>The incidence of ED is closely related to DR in young and middle-aged men with T2DM. Therefore particular attention should be paid to the erectile function of T2DM patients with DR as early as possible.</p>
Subject(s)
Adult , Humans , Male , Middle Aged , Diabetes Mellitus, Type 2 , Diabetic Neuropathies , Diabetic Retinopathy , Erectile DysfunctionABSTRACT
The effects of streptozotocin-induced diabetes or long-term glyburide administration on mRNA levels of components of ATP-sensitive potassium channel(SUR1,SUR2,Kir6.2)in rat brain were observed. Streptozotocin-induced diabetes itself did not affect the mRNA levels of SUR1,SUR2,and Kir6.2 in the brain, and glyburide-treatment increased the Kir6.2 mRNA level in brain by 23% in non-diabetic rats than those in normal control but did not change SUR1 and SUR2 levels.The effects of glyburide on SUR1,SUR2 and Kit6.2 mRNA levels did not manifest in brain of diabetic rats.